Posterior amorphous corneal dystrophy caused by a de novo deletion.
Ophthalmic Genet
; 38(2): 167-170, 2017.
Article
em En
| MEDLINE
| ID: mdl-27096414
ABSTRACT
We present a newborn diagnosed with posterior amorphous corneal dystrophy (PACD). PACD is a rare disorder with partial or complete posterior lamellar corneal opacification. Genetic screening showed a deletion of chromosome 12q21.33-q22 containing the identified four small leucine-rich proteoglycans (SLRP's) associated with this particular dystrophy. Neither parents were carrier of the deletion. To our knowledge, this is the first report of a de novo mutation causing PACD.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 12
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Distrofias Hereditárias da Córnea
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Deleção Cromossômica
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Proteoglicanos Pequenos Ricos em Leucina
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Infant
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article